G69D (p.Gly69Asp) variant of NPC1 (O15118)
G69D (p.Gly69Asp) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G69D (p.Gly69Asp) variant details
- p.Gly69Asp
- rs1360920773
- ClinGen CA401786529
- ClinVar RCV002878776
- TOPMed rs1360920773
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.27
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)